Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 58-year-old woman presented with pericarditis and pericardial effusion. Investigation revealed that she was suffering from a thrombocythemic myeloproliferative disorder; she died of massive pulmonary embolism 10 days after admission. Histologic study verified epicardial and pericardial trilineage hematopoiesis. Pericarditis is an unusual feature of essential thrombocythemia and it may occur in direct relation to the abnormal cellular proliferation.
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PMID:Pericarditis as a manifestation of essential thrombocythemia. 87 12

Venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. Splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproliferative disorders, allowed a diagnosis of an atypical form of chronic myeloproliferative disorder. This form carries a high risk of thrombosis and venous thromboembolism can be the presenting feature, though the course is often indolent. Acute thrombosis in the right jugular vein has not been so far described in these subjects. The outcome of young people with myelofibrosis is unpredictable, but a normal level of hemoglobin and the absence of blast cells and constitutional symptoms at presentation identifies subjects with a low probability of rapid disease progression.
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PMID:Jugular vein thrombosis: a rare presentation of atypical chronic myeloproliferative disorder in a young woman. 1047 61

A 26-year-old woman, after cesarean section in the 33rd week of gestation, developed after delivery thrombosis of the popliteal vein, pulmonary embolism and thrombosis of the portal vein. After completion of a six month period of oral anticoagulation, laboratory investigations revealed diminished levels of plasminogen and free protein S antigen as well as APC-resistance due to heterozygous FV R506Q mutation. After six uneventful years, abdominal sonography and magnetic resonance examination, performed because of abdominal pain, showed liver cirrhosis with Budd-Chiari syndrome. Additional hematological investigations led to the diagnosis of polycythemia vera. Association of myeloproliferative disorders, mainly polycythemia vera, with splanchnic venous thrombosis is well known and should always be looked for.
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PMID:[A 26-year-old woman with splanchnic vein thrombosis as the initial manifestation of polycythemia vera]. 1051 20

Venous thromboembolism (VTE) results from multiple interactions between inherited and environmental risk factors. The lower limbs are the most common site of VTE, but more rarely other venous sites can be involved. The role of risk factors for VTE can be different in the various thrombotic manifestations, and there are specific risk factors for specific sites. Coagulation abnormalities causing inherited thrombophilia are frequently found in patients with cerebral vein thrombosis, but are more rare in those with "isolated" pulmonary embolism, upper limb or retinal vein thrombosis. Transient situations, such as surgery, trauma, prolonged immobilization, the use of oral contraceptives or hormone replacement therapy, and pregnancy or puerperium, are often recognized in patients with lower limb deep vein thrombosis, "isolated" pulmonary embolism, abdominal and cerebral vein thrombosis, but not in patients with upper limb deep vein thrombosis. Major risk factors for deep vein thrombosis of the upper limbs are strong efforts with the arms, whereas for abdominal vein thrombosis are myeloproliferative disorders and liver cirrhosis. In conclusion, there is increasing evidence that inherited and environmental risk factors may interact differently in determining VTE in different sites.
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PMID:Unusual forms of venous thrombosis and thrombophilia. 1367 71

Anagrelide (Agrylin, Xagrid) is an oral imidazoquinazoline agent which is indicated in Europe for the reduction of elevated platelet counts in at-risk patients with essential thrombocythaemia who are intolerant of or refractory to their current therapy, and in the US for the reduction of elevated platelet counts and the amelioration of thrombohaemorrhagic events in patients with thrombocythaemia associated with myeloproliferative disorders. Anagrelide is well established as an effective platelet-lowering agent in most patients with essential thrombocythaemia, including both treatment-naive patients and those refractory to other cytoreductive therapy. Results of the only randomised trial to date (the Primary Thrombocythaemia 1 [PT1] study) indicated that the composite primary endpoint (arterial or venous thrombosis, serious haemorrhage or death from vascular causes) occurred more often in recipients of anagrelide plus aspirin than in those receiving hydroxycarbamide (hydroxyurea) plus aspirin. This trial also indicated that the incidence of the secondary endpoints transient ischaemic attack and gastrointestinal bleeding favoured hydroxycarbamide plus aspirin, while the incidence of venous thrombosis favoured anagrelide plus aspirin. There were no differences between the groups in the incidence of secondary endpoints myocardial infarction, stroke, unstable angina, pulmonary embolism, hepatic-vein thrombosis, other serious haemorrhage or related deaths. The design of the PT1 study has been queried with respect to the heterogeneous nature of the study population (possible inclusion of patients with early myelofibrotic disease) and the concomitant use of aspirin (interaction with anagrelide causing increased bleeding events). Further data are therefore required before the role of anagrelide in essential thrombocythaemia can be finalized. In the meantime, when considering treatment options for patients with this disorder, anagrelide's positive effects on platelet function, lack of mutagenicity and lack of association with leukaemia or angiogenesis must be balanced against its comparative expense and positive inotropic effects. Thus, the role of anagrelide in the management of high-risk patients with essential thrombocythaemia will ultimately depend on individual patient assessment and future clarification of the potential leukaemogenicity of hydroxycarbamide.
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PMID:Anagrelide: a review of its use in the management of essential thrombocythaemia. 1639 70

We reported the case of 61 years old man with the first episode of massive pulmonary embolism at the age of 54 without the proper explanation of the cause. Thrombocythaemia was manifested after the dismissal from the hospital but the origin of this condition was not clarified. Essential thrombocythaemia was diagnosed after the recurrence of venous thromboembolism and that is the explanation for thrombophilic condition in this patient. The patient is without problems and signs of recurrent venous thromboembolism after the achievement of the complete remission of myeloproliferative disease and well-managed of anticoagulation therapy.
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PMID:["Unknown" cause of the onset and recurrence of venous thromboembolism]. 1652 5

Cerebral sinus-venous thrombosis (CSVT) is a rare life-threatening disease with an estimated annual incidence of 3-4 cases per million in adults and 7 cases per million in neonates. Brain tumors, cerebral infections and traumas are local risk factors for CSVT, but the commonest encountered risk factors are oral contraceptive use, pregnancy and puerperium that make the disease predominant in female sex. In 15-20 % of patients, the disease remains unprovoked, i.e., occurring in the absence of predisposing factors. Thrombophilic abnormalities either inherited [deficiency of the natural anticoagulant proteins antithrombin, protein C or protein S, mutations in the factor V gene (factor V Leiden) or prothrombin gene (prothrombin G20210A)] or acquired (antiphospholipid antibodies) are worthy to be investigated in patients with CSVT, as well as hyperhomocysteinemia. In a small proportion of patients, CSVT is the first manifestation of a myeloproliferative neoplasm. The proportion of patients with recurrent CSVT is low, but venous thromboembolism (deep vein thrombosis in the lower limbs or pulmonary embolism) can develop particularly in patients with a first idiopathic CSVT. In the past decade, there has been increasing evidence that early diagnosis and anticoagulant treatment reduce morbidity of CSVT and improve survival. However, the optimal duration of anticoagulant treatment is not well established, because limited information is available on the rate of CSVT recurrence after anticoagulant discontinuation.
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PMID:Cerebral sinus-venous thrombosis. 2307 61

The estimated annual incidence of cerebral vein thrombosis (CVT) is 3 to 4 cases per million in adults and 7 cases per million in neonates. Among the commonest risk factors there are oral contraceptive use, pregnancy and puerperium that make CVT more frequent in women than in men. Cerebral tumors, infections and traumas are less encountered local risk factors. In 15-20% of patients CVT remains unprovoked. Coagulation abnormalities causing thrombophilia, as well as hyperhomocysteinemia, are worthy to be investigated in patients with CVT. Rarely CVT can be the first clinical manifestation of a myeloproliferative neoplasm. The recurrence rate of CVT is low, but venous thromboembolism in the common sites (lower-limb deep vein thrombosis or pulmonary embolism) can recur, particularly in patients with a first idiopathic CVT. Early diagnosis and anticoagulant treatment reduce morbidity of CVT and improve survival, although the optimal duration of anticoagulant treatment is not well established.
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PMID:Cerebral vein thrombosis. 2345 43

Pulmonary embolism is a rare clinical onset of chronic myeloproliferative diseases. Early diagnosis is very important because medical therapy reduces both mortality and morbility. We describe a case of pulmonary embolism as clinical onset of an unknown myeloproliferative disorder. On the basis of our experience is very important early diagnosis and therapy to reduce incidence of later major thrombotic complications.
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PMID:[Polycitemia vera and pulmonary embolism: case report]. 2436 34

JAK 2 mutation is the molecular event responsible for 95% of polycythemia cases and 50% of thrombocythemia vera and myelofibrosis cases. It can be used as a tool for the diagnosis of myeloproliferative disorders. We report a case illustrating the fact that a negative result does not definitively eliminate the diagnosis. A 40-year old woman, with a medical history of familial deep vein thrombosis, developed thrombosis of the inferior vena cava with extension to the suprahepatic veins and pulmonary embolism. No constitutional or acquired thrombophilia was diagnosed; search for JAK 2 mutation was negative. The patient was treated with fluindione. Five years later, she relapsed with popliteo-femoral and vena cava deep vein thrombosis. The etiological work-up included a PET scan which revealed diffuse uptake in bones and suspected neoplasic bone marrow invasion. Progenitor cell cultures were positive and JAK 2 mutation was confirmed. The bone marrow aspirate had the cytologic appearance of a myeloproliferative disorder. This case illustrates the fact that JAK 2 mutation can be identified several years after onset of a latent myeloproliferative disorder. Cases with a high clinical likelihood should lead to renewed search for this mutation. Secondary discovery of this mutation can be explained by a higher proportion of mutation expressing clones.
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PMID:[Recurrent deep vein thrombosis and myeloproliferative syndrom: emergence of JAK2 mutation five years after the initial event]. 2472 Oct


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